Not just a carrier: Clinical presentation and management of patients with heterozygous disease‐causing alkaline phosphatase (ALPL) variants identified through expanded carrier screening

Not just a carrier: Clinical presentation and management of patients with heterozygous disease‐causing alkaline phosphatase (ALPL) variants identified through expanded carrier screening

Abstract Hypophosphatasia (HPP) is an underrecognized, complex bone mineralization disorder with variable manifestations caused by one or two deleterious variants in the alkaline phosphatase (ALPL) gene. Expanded carrier screening (ECS), inclusive of ALPL, intends to inform reproductive risk but may...

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Bibliographic Details
Main Authors: Natalie M. Beck, Katelynn G. Sagaser, Cathleen S. Lawson, Christine Hertenstein, Ashley Jachens, Katherine R. Forster, Kristen A. Miller, Angie C. Jelin, Karin J. Blakemore, Julie Hoover‐Fong
Format: Article
Language:English
Published: Wiley 2023-01-01
Series:Molecular Genetics & Genomic Medicine
Subjects:
ALPL
carrier screening
genetic testing
hypophosphatasia
incidental diagnosis
Online Access:https://doi.org/10.1002/mgg3.2056

Internet

https://doi.org/10.1002/mgg3.2056

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